Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial involvement.
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medRxiv [Preprint]. 2024 Feb 11:2024.02.10.24302480. doi: 10.1101/2024.02.10.24302480.
medRxiv. 2024.
PMID: 38370827
Free PMC article.
Preprint.